IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.010 GeneticVariation disease BEFREE Q70X is one of the frequent diseases causing mutations of alpha-L-iduronidase (IDUA), leading to a severe phenotype with mental retardation and various somatic abnormalities, and making a request for PGD is understandable. 16478590 2006